A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175435



Internal ID15854639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11760426..11778325hg38UCSC Ensembl
Innerchr12:11913360..11931259hg19UCSC Ensembl
Innerchr12:11804627..11822526hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817900
hg1917900
hg1817900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557574
Supporting Variants
Samples1780862252_A
Known GenesETV6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175435
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer